Show 10 5 10 15 20 50 100 250 Sort by year (new to old) Actions Download search results Subscribe to news feed Your filters: cql: author="Ciara, Elżbieta*" or (type exact bookEditor and editor="Ciara, Elżbieta*") Add to list Journal Article A1 open access Clinical implementation of RNA sequencing for Mendelian disease diagnostics Vincente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, et al. (2022) GENOME MEDICINE. 14(1). Add to list Journal Article A1 open access Biallelic mutations in TMEM126B cause severe complex I deficiency with a variable clinical phenotype Charlotte L Alston, Alison G Compton, Luke E Formosa, Valentina Strecker, Monika Oláhová, Tobias B Haack, Joél Smet (UGent) , Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, et al. (2016) AMERICAN JOURNAL OF HUMAN GENETICS. 99(1). p.217-227